Why are genetics so important?

It is important to understand the relevance of genetics as the scientifically based starting point for calculating the genetic load, which shows us the probability of developing a disease due to our genetic makeup.

Human cells consist of 46 chromosomes. These consist of 2 sex chromosomes (X and Y) and 22 pairs of non-sex chromosomes (autosomal). Males have “46, XY” and females “46, XX”. Chromosomes consist of strands of genetic information called DNA, which contains sections called genes. These carry the information needed for your body to make specific proteins.

Each pair of autosomal chromosomes contains one chromosome from the mother and one from the father, meaning each pair has the same number of genes.

Genetic testing can be beneficial when determining whether a person has a congenital disease or is likely to develop one in the future. In genetic tests, tissue or blood is taken to be analyzed and to determine any change in the genetic blueprint. The information obtained in this test can be used to diagnose congenital disease, initiate treatment, or take preventive measures.

• To confirm or rule out a diagnosis in a person who has symptoms of a genetic disease.

• For people with a family history or children with a genetic disease.

• To detect possible genetic diseases in newborns to start treatment as soon as possible.

A person’s blood, skin, hair, or other tissue sample is analyzed to study their DNA, chromosomes, or proteins and detect any modification or mutation associated with a genetic disease. Mutations can affect all or part of the gene and cause abnormal function leading to disease.

Neonatal screening or screening is the most common genetic test. Most newborns should have this test to screen for genetic diseases. Thanks to the early detection of these diseases, interventions can be carried out to prevent the appearance of symptoms or minimize the severity of the disease.

PRECONCEPTION carrier detection tests can help couples to know if they are carriers (and, if so, if there is a risk of transmission to their children) of an allele of a recessive disease such as cystic fibrosis or Tay-Sachs disease. Testing both parents can determine if the couple is likely to have a child with a genetic disease.

Prenatal diagnostic tests are used to detect changes in the genes or chromosomes of a fetus. This testing is recommended for couples at increased risk of having a baby with a genetic or chromosomal disorder. In this test, a tissue sample is obtained through amniocentesis or chorionic villus.

In determining whether you or a family member should undergo genetic testing, you will need to consider several issues, both from a medical and an emotional perspective. The result of a genetic test can provide a diagnosis and help obtain information about symptom management, treatment, or lifestyle changes. However, genetic testing has its limitations. When a genetic test detects a mutation, it is not always possible to determine when or which symptoms of the disease might appear, which ones will occur first, the severity of the disease, or how it will progress over time. Even if the test result is negative, the person could still be at risk of disease.

Given the complexity of the medical and emotional aspects of genetic testing, the patient must consult with a medical professional, such as a genetic counselor.

If you require more information on this topic, please contact our experts in genetics Colgenes al +57 313 6096603

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